Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806958C>A | CA155097 | SCN8A | c.5472C>A (p.Pro1824=) c.3536C>A c.5349C>A (p.Pro1783=) c.5505C>A (p.Pro1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806958C= | CA2036194122 | SCN8A | c.5472C= (p.Pro1824=) c.3536C= c.5349C= (p.Pro1783=) c.5505C= (p.Pro1835=) | |
12 | g.51806958C>G | CA6571920 | SCN8A | c.5472C>G (p.Pro1824=) c.3536C>G c.5349C>G (p.Pro1783=) c.5505C>G (p.Pro1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806958C>T | CA236327655 | SCN8A | c.5472C>T (p.Pro1824=) c.3536C>T c.5349C>T (p.Pro1783=) c.5505C>T (p.Pro1835=) | dbSNP |
12 | g.51806958_51806959insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA | CA947652706 | SCN8A | c.5472_5473insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1824_Asn1825insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) c.3536_3537insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA c.5349_5350insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1783_Asn1784insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) c.5505_5506insTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCA (p.Pro1835_Asn1836insPheAlaAspAlaLeuGluHisProLeuArgValProLysPro) | gnomAD v3 gnomAD v4 |
12 | g.51806959A>C | CA384886591 | SCN8A | c.5473A>C (p.Asn1825His) c.3537A>C c.5350A>C (p.Asn1784His) c.5506A>C (p.Asn1836His) | |
12 | g.51806959A>G | CA384886593 | SCN8A | c.5473A>G (p.Asn1825Asp) c.3537A>G c.5350A>G (p.Asn1784Asp) c.5506A>G (p.Asn1836Asp) | |
12 | g.51806959A>T | CA384886604 | SCN8A | c.5473A>T (p.Asn1825Tyr) c.3537A>T c.5350A>T (p.Asn1784Tyr) c.5506A>T (p.Asn1836Tyr) | |
12 | g.51806960A= | CA2036194144 | SCN8A | c.5474A= (p.Asn1825=) c.3538A= c.5351A= (p.Asn1784=) c.5507A= (p.Asn1836=) | |
12 | g.51806960A>C | CA384886610 | SCN8A | c.5474A>C (p.Asn1825Thr) c.3538A>C c.5351A>C (p.Asn1784Thr) c.5507A>C (p.Asn1836Thr) | |
12 | g.51806960A>G | CA384886613 | SCN8A | c.5474A>G (p.Asn1825Ser) c.3538A>G c.5351A>G (p.Asn1784Ser) c.5507A>G (p.Asn1836Ser) | dbSNP gnomAD v4 |
12 | g.51806960A>T | CA384886612 | SCN8A | c.5474A>T (p.Asn1825Ile) c.3538A>T c.5351A>T (p.Asn1784Ile) c.5507A>T (p.Asn1836Ile) | |
12 | g.51806961T>A | CA384886617 | SCN8A | c.5475T>A (p.Asn1825Lys) c.3539T>A c.5352T>A (p.Asn1784Lys) c.5508T>A (p.Asn1836Lys) | dbSNP |
12 | g.51806961T>C | CA6571921 | SCN8A | c.5475T>C (p.Asn1825=) c.3539T>C c.5352T>C (p.Asn1784=) c.5508T>C (p.Asn1836=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806961T>G | CA384886618 | SCN8A | c.5475T>G (p.Asn1825Lys) c.3539T>G c.5352T>G (p.Asn1784Lys) c.5508T>G (p.Asn1836Lys) | |
12 | g.51806961T= | CA2036194153 | SCN8A | c.5475T= (p.Asn1825=) c.3539T= c.5352T= (p.Asn1784=) c.5508T= (p.Asn1836=) | |
12 | g.51806962A>C | CA384886623 | SCN8A | c.5476A>C (p.Thr1826Pro) c.3540A>C c.5353A>C (p.Thr1785Pro) c.5509A>C (p.Thr1837Pro) | |
12 | g.51806962A>G | CA384886628 | SCN8A | c.5476A>G (p.Thr1826Ala) c.3540A>G c.5353A>G (p.Thr1785Ala) c.5509A>G (p.Thr1837Ala) | gnomAD v4 |
12 | g.51806962A>T | CA384886635 | SCN8A | c.5476A>T (p.Thr1826Ser) c.3540A>T c.5353A>T (p.Thr1785Ser) c.5509A>T (p.Thr1837Ser) | |
12 | g.51806963C>A | CA384886636 | SCN8A | c.5477C>A (p.Thr1826Asn) c.3541C>A c.5354C>A (p.Thr1785Asn) c.5510C>A (p.Thr1837Asn) | |
12 | g.51806963C>G | CA384886637 | SCN8A | c.5477C>G (p.Thr1826Ser) c.3541C>G c.5354C>G (p.Thr1785Ser) c.5510C>G (p.Thr1837Ser) | gnomAD v4 |
12 | g.51806963C>T | CA384886638 | SCN8A | c.5477C>T (p.Thr1826Ile) c.3541C>T c.5354C>T (p.Thr1785Ile) c.5510C>T (p.Thr1837Ile) | |
12 | g.51806964C>A | CA480061857 | SCN8A | c.5478C>A (p.Thr1826=) c.3542C>A c.5355C>A (p.Thr1785=) c.5511C>A (p.Thr1837=) | |
12 | g.51806964C>G | CA480061858 | SCN8A | c.5478C>G (p.Thr1826=) c.3542C>G c.5355C>G (p.Thr1785=) c.5511C>G (p.Thr1837=) | |
12 | g.51806964C>T | CA480061859 | SCN8A | c.5478C>T (p.Thr1826=) c.3542C>T c.5355C>T (p.Thr1785=) c.5511C>T (p.Thr1837=) | gnomAD v4 |
12 | g.51806965A= | CA2036194160 | SCN8A | c.5479A= (p.Ile1827=) c.3543A= c.5356A= (p.Ile1786=) c.5512A= (p.Ile1838=) | |
12 | g.51806965A>C | CA384886640 | SCN8A | c.5479A>C (p.Ile1827Leu) c.3543A>C c.5356A>C (p.Ile1786Leu) c.5512A>C (p.Ile1838Leu) | |
12 | g.51806965A>G | CA6571922 | SCN8A | c.5479A>G (p.Ile1827Val) c.3543A>G c.5356A>G (p.Ile1786Val) c.5512A>G (p.Ile1838Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806965A>T | CA384886643 | SCN8A | c.5479A>T (p.Ile1827Phe) c.3543A>T c.5356A>T (p.Ile1786Phe) c.5512A>T (p.Ile1838Phe) | |
12 | g.51806966T>A | CA384886650 | SCN8A | c.5480T>A (p.Ile1827Asn) c.3544T>A c.5357T>A (p.Ile1786Asn) c.5513T>A (p.Ile1838Asn) | |
12 | g.51806966T>C | CA384886661 | SCN8A | c.5480T>C (p.Ile1827Thr) c.3544T>C c.5357T>C (p.Ile1786Thr) c.5513T>C (p.Ile1838Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.51806966T>G | CA384886658 | SCN8A | c.5480T>G (p.Ile1827Ser) c.3544T>G c.5357T>G (p.Ile1786Ser) c.5513T>G (p.Ile1838Ser) | |
12 | g.51806966T= | CA2036194171 | SCN8A | c.5480T= (p.Ile1827=) c.3544T= c.5357T= (p.Ile1786=) c.5513T= (p.Ile1838=) | |
12 | g.51806967T>A | CA480061862 | SCN8A | c.5481T>A (p.Ile1827=) c.3545T>A c.5358T>A (p.Ile1786=) c.5514T>A (p.Ile1838=) | |
12 | g.51806967T>C | CA480061864 | SCN8A | c.5481T>C (p.Ile1827=) c.3545T>C c.5358T>C (p.Ile1786=) c.5514T>C (p.Ile1838=) | |
12 | g.51806967T>G | CA384886662 | SCN8A | c.5481T>G (p.Ile1827Met) c.3545T>G c.5358T>G (p.Ile1786Met) c.5514T>G (p.Ile1838Met) | |
12 | g.51806968G>A | CA384886665 | SCN8A | c.5482G>A (p.Glu1828Lys) c.3546G>A c.5359G>A (p.Glu1787Lys) c.5515G>A (p.Glu1839Lys) | |
12 | g.51806968G>C | CA384886669 | SCN8A | c.5482G>C (p.Glu1828Gln) c.3546G>C c.5359G>C (p.Glu1787Gln) c.5515G>C (p.Glu1839Gln) | gnomAD v4 |
12 | g.51806968G= | CA2036194181 | SCN8A | c.5482G= (p.Glu1828=) c.3546G= c.5359G= (p.Glu1787=) c.5515G= (p.Glu1839=) | |
12 | g.51806968G>T | CA384886672 | SCN8A | c.5482G>T (p.Glu1828Ter) c.3546G>T c.5359G>T (p.Glu1787Ter) c.5515G>T (p.Glu1839Ter) | dbSNP |
12 | g.51806969A>C | CA384886690 | SCN8A | c.5483A>C (p.Glu1828Ala) c.3547A>C c.5360A>C (p.Glu1787Ala) c.5516A>C (p.Glu1839Ala) | |
12 | g.51806969A>G | CA384886691 | SCN8A | c.5483A>G (p.Glu1828Gly) c.3547A>G c.5360A>G (p.Glu1787Gly) c.5516A>G (p.Glu1839Gly) | |
12 | g.51806969A>T | CA384886696 | SCN8A | c.5483A>T (p.Glu1828Val) c.3547A>T c.5360A>T (p.Glu1787Val) c.5516A>T (p.Glu1839Val) | |
12 | g.51806970G>A | CA480061866 | SCN8A | c.5484G>A (p.Glu1828=) c.3548G>A c.5361G>A (p.Glu1787=) c.5517G>A (p.Glu1839=) | gnomAD v4 |
12 | g.51806970G>C | CA384886702 | SCN8A | c.5484G>C (p.Glu1828Asp) c.3548G>C c.5361G>C (p.Glu1787Asp) c.5517G>C (p.Glu1839Asp) | |
12 | g.51806970G>T | CA384886714 | SCN8A | c.5484G>T (p.Glu1828Asp) c.3548G>T c.5361G>T (p.Glu1787Asp) c.5517G>T (p.Glu1839Asp) | gnomAD v4 |
12 | g.51806971C>A | CA384886726 | SCN8A | c.5485C>A (p.Leu1829Ile) c.3549C>A c.5362C>A (p.Leu1788Ile) c.5518C>A (p.Leu1840Ile) | |
12 | g.51806971C= | CA2036194183 | SCN8A | c.5485C= (p.Leu1829=) c.3549C= c.5362C= (p.Leu1788=) c.5518C= (p.Leu1840=) | |
12 | g.51806971C>G | CA384886745 | SCN8A | c.5485C>G (p.Leu1829Val) c.3549C>G c.5362C>G (p.Leu1788Val) c.5518C>G (p.Leu1840Val) | |
12 | g.51806971C>T | CA6571923 | SCN8A | c.5485C>T (p.Leu1829Phe) c.3549C>T c.5362C>T (p.Leu1788Phe) c.5518C>T (p.Leu1840Phe) | dbSNP ExAC |